METHOD, SYSTEM, AND COMPUTER-READABLE MEDIUM FOR DETERMINING SNP INFORMATION IN A PREDETERMINED CHROMOSOMAL REGION

摘要

The present invention provides a method, system, and computer-readable medium for determining SNP information in a predetermined chromosomal region. The method for determining SNP information in a predetermined chromosomal region comprises: constructing a sequencing library for at least one part of a chromosome; using a probe to screen said sequencing library; the probe specifically identifying at least one of the known SNP sites in said predetermined region so as to obtain a target capture fragment, said target capture fragment including the SNP site; sequencing the screened sequencing library so as to obtain sequencing results; and determining on the basis of the sequencing results the SNP information in said predetermined region.